The β-thalassemias are a group of hereditary hematological diseases caused by over 300
mutations of the adult β-globin gene. Together with sickle cell anemia, thalassemia …

Investigations to understand the function and control of the globin genes have led to some of
the most exciting molecular discoveries and biomedical breakthroughs of the 20th and 21st …

Genetic disorders resulting from defects in the adult globin genes are among the most
common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is …

Transcription factor B-cell lymphoma/leukemia 11A (BCL11A) gene encodes a zinc-finger
protein that is predominantly expressed in brain and hematopoietic tissue. BCL11A …

Gene therapy has shown significant potential in treating various diseases, particularly
inherited blood disorders such as hemophilia, sickle cell disease, and thalassemia …

Abstract DNA methyltransferase 1 (DNMT1) is a major epigenetic regulator of the formation
of large macromolecular complexes that repress human γ-globin expression by maintaining …

Inherited genetic modifiers and pharmacologic agents that enhance fetal hemoglobin (HbF)
expression reverse the clinical severity of sickle cell disease (SCD). Recent efforts to …

Thalassemia, an inherited quantitative globin disorder, consists of two types, α–and β–
thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or …

The fetal-to-adult hemoglobin switch is regulated in a developmental stage-specific manner
and reactivation of fetal hemoglobin (HbF) has therapeutic implications for treatment of β …

Tissue oxygenation throughout life depends on the activity of hemoglobin (Hb) one of the
hemeproteins that binds oxygen in the lungs and secures its delivery throughout the body …